Nonendemic Goitre and Deafness

Nilsson, Lars; Borgfors, Nils; Gamstorp, Ingrid; Holst, Hans‐Eric; Lidén, Gunnar

doi:10.1111/j.1651-2227.1964.tb07218.x

Cited by 41 publications

(15 citation statements)

References 25 publications

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“…There is, however, a substantial variation within and between families and different geographic regions (62)(63)(64). Nutritional iodide intake appears to play an important role as a modifier of the thyroidal phenotype (65,66).…”

Section: Pendred Syndromementioning

confidence: 96%

“…However, autoradiography studies revealed that iodide first accumulates in the cytosol and subsequently moves to the follicular lumen (78). This transport of iodide across the apical membrane is rapidly stimulated by TSH (64,79). Hence, it has been proposed that apical iodide efflux is mediated through a specific transporter or channel.…”

Section: Questions Concerning the Role Of Pendrin As An Apical Iodidementioning

confidence: 98%

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The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

2009

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Thyroid hormones are essential for normal development and metabolism. Thyroid hormone biosynthesis requires iodide uptake into the thyrocytes and efflux into the follicular lumen, where it is organified on selected tyrosyls of thyroglobulin. Uptake of iodide into the thyrocytes is mediated by an intrinsic membrane glycoprotein, the sodium-iodide symporter (NIS), which actively cotransports two sodium cations per each iodide anion. NIS-mediated transport of iodide is driven by the electrochemical sodium gradient generated by the Na(+)/K(+)-ATPase. NIS is expressed in the thyroid, the salivary glands, gastric mucosa, and the lactating mammary gland. TSH and iodide regulate iodide accumulation by modulating NIS activity via transcriptional and posttranscriptional mechanisms. Biallelic mutations in the NIS gene lead to a congenital iodide transport defect, an autosomal recessive condition characterized by hypothyroidism, goiter, low thyroid iodide uptake, and a low saliva/plasma iodide ratio. Pendrin is an anion transporter that is predominantly expressed in the inner ear, the thyroid, and the kidney. Biallelic mutations in the SLC26A4 gene lead to Pendred syndrome, an autosomal recessive disorder characterized by sensorineural deafness, goiter, and impaired iodide organification. In thyroid follicular cells, pendrin is expressed at the apical membrane. Functional in vitro data and the impaired iodide organification observed in patients with Pendred syndrome support a role of pendrin as an apical iodide transporter.

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Section: Pendred Syndromementioning

confidence: 96%

Section: Questions Concerning the Role Of Pendrin As An Apical Iodidementioning

confidence: 98%

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

2009

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“…The earliest report on more moderate hearing impairment dates from 1964. 11 Nevertheless, sensorineural hearing impairment of less than 80 dB is reported rarely. No longterm follow-up data on the hearing impairment are available in these cases.…”

Section: Commentmentioning

confidence: 99%

“…In many cases, profound deafness in childhood is reported. There are occasional reports 8,[11][12][13][14][15][16] of a milder hearing impairment. Until now, only 3 case rep o r t s h a v e d e s c r i b e d s o m e fluctuation or progression of the hearing loss.…”

mentioning

confidence: 99%

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

Cremers¹,

Bolder²,

Admiraal³

et al. 1998

Arch Otolaryngol Head Neck Surg

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Pendred syndrome is an autosomal recessive inherited disorder. Obligatory features are profound deafness in childhood and defective organic binding of iodine in the thyroid gland. Therefore, goiter is a common symptom. Hypoplasia of the cochlea is another feature. Recently, the gene for Pendred syndrome was identified. We describe a boy whose sensorineural hearing loss in both ears progressed rapidly from about 50 to 60 dB at the age of 3 years and 3 months to more than 100 dB at the age of 4 years and 4 months. This loss was preceded by a medical history of a progressive hearing loss. The progressive nature of the hearing loss motivated a search for the cause. Dysplasia of the cochlea and a widened vestibular aqueduct were found. The results of thyroid function tests were normal, but he had an elevated level of thyroglobulin. The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of iodine in the thyroid gland. It is possible that the widened vestibular aqueduct was responsible for the increase in the hearing impairment. Aside from the branchio-otorenal syndrome, Pendred syndrome is the only other known genetic disorder with a widened vestibular aqueduct. If a child has progressive sensorineural deafness and a widened vestibular aqueduct, it is important to consider a diagnosis of Pendred syndrome. A widened vestibular aqueduct may help to elucidate the pathophysiologic characteristics of hearing loss in these genetic types of deafness in childhood.

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“…It is generally thought that the development of hypothyroidism in patients with Pendred syndrome occurs under conditions of a low nutritional iodide intake [26][27][28][29][30]. For example, patients with Pendred syndrome from an iodide-deficient region from Northern Mexico have been found to have overt congenital hypothyroidism [31].…”

Section: Thyroid Phenotype In Patients With Biallelic Slc26a4 Mutationsmentioning

confidence: 99%

Controversies Concerning the Role of Pendrin as an Apical Iodide Transporter in Thyroid Follicular Cells

Bizhanova

Kopp

2011

Cell Physiol Biochem

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Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and a partial organification defect of iodide. It is caused by biallelic mutations in the multifunctional anion transporter pendrin/SLC26A4. In human thyroid tissue, pendrin is localized at the apical membrane of thyroid follicular cells. The clinical phenotype of patients with Pendred syndrome and the fact that pendrin can mediate iodide efflux in transfected cells suggest that this anion exchanger may be involved in mediating iodide efflux into the follicular lumen, a key step in thyroid hormone biosynthesis. This concept has, however, been questioned. This review discusses supporting evidence as well as arguments questioning a role of pendrin in mediating iodide efflux in thyrocytes.

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Nonendemic Goitre and Deafness

Cited by 41 publications

References 25 publications

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

The Sodium-Iodide Symporter NIS and Pendrin in Iodide Homeostasis of the Thyroid

Progressive Sensorineural Hearing Loss and a Widened Vestibular Aqueduct in Pendred Syndrome

Controversies Concerning the Role of Pendrin as an Apical Iodide Transporter in Thyroid Follicular Cells

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